Canonical Allele Identifier: CA1883392999

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835089G= , CM000671.2:g.134835089G=	GRCh38
NC_000009.11:g.137726935G= , CM000671.1:g.137726935G=	GRCh37
NC_000009.10:g.136866756G=	NCBI36
NG_008030.1:g.198284G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5255G=	ENSP00000360885.4:p.Trp1752=
ENST00000371817.8:c.5255G= MANE Select	ENSP00000360882.3:p.Trp1752=
ENST00000371817.7:c.5255G=	ENSP00000360882.3:p.Trp1752=
ENST00000371820.3:c.513G=
ENST00000618395.4:c.5255G=	ENSP00000481360.1:p.Trp1752=
NM_000093.4:c.5255G=	NP_000084.3:p.Trp1752=
NM_001278074.1:c.5255G=	NP_001265003.1:p.Trp1752=
NR_103451.2:n.71-14880C=
NM_000093.5:c.5255G= MANE Select	NP_000084.3:p.Trp1752=